CA3160848A1 - Test moleculaire de grossesses multiples - Google Patents
Test moleculaire de grossesses multiplesInfo
- Publication number
- CA3160848A1 CA3160848A1 CA3160848A CA3160848A CA3160848A1 CA 3160848 A1 CA3160848 A1 CA 3160848A1 CA 3160848 A CA3160848 A CA 3160848A CA 3160848 A CA3160848 A CA 3160848A CA 3160848 A1 CA3160848 A1 CA 3160848A1
- Authority
- CA
- Canada
- Prior art keywords
- fetuses
- fetal dna
- loci
- allele
- amount
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Pending
Links
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Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/30—Unsupervised data analysis
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/154—Methylation markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/40—Population genetics; Linkage disequilibrium
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Chemical & Material Sciences (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Medical Informatics (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Evolutionary Biology (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Immunology (AREA)
- Data Mining & Analysis (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Evolutionary Computation (AREA)
- Public Health (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Software Systems (AREA)
- Databases & Information Systems (AREA)
- Epidemiology (AREA)
- Artificial Intelligence (AREA)
- Bioethics (AREA)
- Cell Biology (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
- Addition Polymer Or Copolymer, Post-Treatments, Or Chemical Modifications (AREA)
Abstract
La présente invention concerne l'analyse non invasive d'ADN foetal. Il est difficile d'analyser un échantillon biologique maternel d'une grossesse à foetus multiples, en raison des différentes possibilités d'allèles ayant différentes possibilités de zygosités. Il est décrit des procédés pour déterminer une concentration d'ADN foetal et déterminer la zygosité. Les procédés comprennent la création d'un histogramme au moyen des loci dans les régions chromosomiques dans lesquels un premier allèle respectif et un deuxième allèle respectif sont détectés. Pour déterminer la concentration d'ADN foetal, on associe à l'histogramme une combinaison linéaire de distributions de probabilités, ledit pourcentage d'ADN foetal étant un intrant dans la combinaison linéaire de distributions de probabilités. On fait varier la concentration d'ADN foetal intrant pour en arriver à une concentration d'ADN foetal qui optimise une correspondance avec la combinaison linéaire de l'histogramme. Pour déterminer la zygosité, on associe un modèle de mélange à composantes multiples à l'histogramme, ledit modèle comprenant des coefficients de mélange. On détermine la zygosité en utilisant au moins deux des coefficients.
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161446256P | 2011-02-24 | 2011-02-24 | |
| US61/446,256 | 2011-02-24 | ||
| CA2827873A CA2827873C (fr) | 2011-02-24 | 2012-02-24 | Test moleculaire de grossesses multiples |
Related Parent Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2827873A Division CA2827873C (fr) | 2011-02-24 | 2012-02-24 | Test moleculaire de grossesses multiples |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA3160848A1 true CA3160848A1 (fr) | 2013-03-28 |
Family
ID=47753591
Family Applications (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2827873A Active CA2827873C (fr) | 2011-02-24 | 2012-02-24 | Test moleculaire de grossesses multiples |
| CA3160848A Pending CA3160848A1 (fr) | 2011-02-24 | 2012-02-24 | Test moleculaire de grossesses multiples |
Family Applications Before (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2827873A Active CA2827873C (fr) | 2011-02-24 | 2012-02-24 | Test moleculaire de grossesses multiples |
Country Status (9)
| Country | Link |
|---|---|
| US (2) | US10900080B2 (fr) |
| EP (5) | EP2678451B1 (fr) |
| JP (2) | JP5837622B2 (fr) |
| CN (2) | CN103492589B (fr) |
| AU (1) | AU2012311262C1 (fr) |
| CA (2) | CA2827873C (fr) |
| HK (1) | HK1203567A1 (fr) |
| TW (1) | TWI611186B (fr) |
| WO (1) | WO2013041921A1 (fr) |
Families Citing this family (22)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| PT3241914T (pt) | 2009-11-05 | 2019-04-30 | Sequenom Inc | Análise genómica fetal a partir de uma amostra biológica materna |
| US11322224B2 (en) * | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| EP2678451B1 (fr) | 2011-02-24 | 2017-04-26 | The Chinese University Of Hong Kong | Test moléculaire de grossesses multiples |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| SG11201407517QA (en) * | 2012-05-23 | 2014-12-30 | Bgi Diagnosis Co Ltd | Method and system for identifying types of twins |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| TWI489305B (zh) * | 2012-11-21 | 2015-06-21 | Bgi Diagnosis Co Ltd | 對胎兒遺傳異常的無創性檢測 |
| CN109136364A (zh) * | 2013-02-28 | 2019-01-04 | 香港中文大学 | 通过大规模平行rna测序分析母亲血浆转录组 |
| EA201500939A1 (ru) * | 2013-03-15 | 2016-01-29 | Те Чайниз Юниверсити Ов Гонконг | Определение геномов плодов при многоплодных беременностях |
| LT3011051T (lt) | 2013-06-21 | 2019-05-10 | Sequenom, Inc. | Genetinių variacijų neinvazinis vertinimo būdas |
| AU2016295712B2 (en) * | 2015-07-20 | 2022-06-02 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in tissues in DNA mixture |
| US11854666B2 (en) | 2016-09-29 | 2023-12-26 | Myriad Women's Health, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization |
| WO2018223055A1 (fr) * | 2017-06-02 | 2018-12-06 | Affymetrix, Inc. | Procédés basés sur un réseau pour analyser des échantillons mixtes à l'aide de sondes spécifiques d'allèles marquées différemment |
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| CN103492589B (zh) | 2016-06-15 |
| EP2860265A1 (fr) | 2015-04-15 |
| AU2012311262A1 (en) | 2013-05-02 |
| EP2678451A4 (fr) | 2014-10-22 |
| AU2012311262C1 (en) | 2017-06-29 |
| TWI611186B (zh) | 2018-01-11 |
| CA2827873C (fr) | 2022-08-16 |
| EP3489368B1 (fr) | 2020-09-09 |
| CN106011237B (zh) | 2019-12-13 |
| EP3202921A1 (fr) | 2017-08-09 |
| EP3489368A1 (fr) | 2019-05-29 |
| EP2678451B1 (fr) | 2017-04-26 |
| CN103492589A (zh) | 2014-01-01 |
| JP2016034282A (ja) | 2016-03-17 |
| JP5837622B2 (ja) | 2015-12-24 |
| US20210095340A1 (en) | 2021-04-01 |
| TW201243326A (en) | 2012-11-01 |
| EP3202921B1 (fr) | 2019-02-13 |
| US20130059733A1 (en) | 2013-03-07 |
| WO2013041921A1 (fr) | 2013-03-28 |
| EP2678451A1 (fr) | 2014-01-01 |
| HK1203567A1 (en) | 2015-10-30 |
| CN106011237A (zh) | 2016-10-12 |
| AU2012311262B2 (en) | 2014-10-09 |
| US10900080B2 (en) | 2021-01-26 |
| JP2014507158A (ja) | 2014-03-27 |
| EP2682887A2 (fr) | 2014-01-08 |
| CA2827873A1 (fr) | 2013-03-28 |
| EP2860265B1 (fr) | 2016-10-26 |
| JP6068598B2 (ja) | 2017-01-25 |
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